Canonical Allele Identifier: CA2587804975
Gene: ELANE HGNC NCBI

Linked Data

gnomAD v4: 19-853140-GGGCCCGCGGGGCCCCTCGAGCACCTTCGCCCTCAGGCCCGTCGCCGGATGGGGACGACAA-G
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.853144_853203del , CM000681.2:g.853144_853203del GRCh38
NC_000019.9:g.853144_853203del , CM000681.1:g.853144_853203del GRCh37
NC_000019.8:g.804144_804203del NCBI36
NG_009627.1:g.5854_5913del , LRG_57:g.5854_5913del

Transcript Alleles

HGVS Amino-acid change
ENST00000263621.2:c.224+112_225-59del MANE Select ENSP00000263621.1:n.224+112_225-59del
ENST00000263621.1:c.224+112_225-59del ENSP00000263621.1:n.224+112_225-59del
ENST00000590230.5:c.224+112_225-59del ENSP00000466090.1:n.224+112_225-59del
NM_001972.2:c.224+112_225-59del , LRG_57t1:c.224+112_225-59del NP_001963.1:n.224+112_225-59del
XM_011527775.1:c.224+112_225-59del XP_011526077.1:n.224+112_225-59del
XM_011527776.1:c.224+112_225-59del XP_011526078.1:n.224+112_225-59del
NM_001972.3:c.224+112_225-59del NP_001963.1:n.224+112_225-59del
NM_001972.4:c.224+112_225-59del MANE Select NP_001963.1:n.224+112_225-59del
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